We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland. Copyright © 2010 by The Endocrine Society.

A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid / Amendola, Elena; Sanges, Remo; Galvan, Antonella; Dathan, Nina; Manenti, Giacomo; Ferrandino, Giuseppe; Alvino, Francesca Maria; Di Palma, Tina; Scarf̀o, Marzia; Zannini, Mariastella; Dragani, Tommaso A.; De Felice, Mario; Di Lauro, Roberto. - In: ENDOCRINOLOGY. - ISSN 0013-7227. - 151:4(2010), pp. 1948-1958. [10.1210/en.2009-1240]

A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid

Sanges, Remo
Membro del Collaboration group
;
2010-01-01

Abstract

We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland. Copyright © 2010 by The Endocrine Society.
2010
151
4
1948
1958
10.1210/en.2009-1240
http://endo.endojournals.org/cgi/reprint/151/4/1948
Amendola, Elena; Sanges, Remo; Galvan, Antonella; Dathan, Nina; Manenti, Giacomo; Ferrandino, Giuseppe; Alvino, Francesca Maria; Di Palma, Tina; Scarf...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11767/68573
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